AUTOMATED SEQUENCE VARIATION ANALYSIS SOFTWARE

DNA序列变异自动分析软件及数据库的开发 提出了管理方案。该软件旨在分析二倍体 来自研究人群中患者的测序和甲基化分析样品 已经通过一些定义标准或表型进行了分层， 感兴趣的疾病该软件的目标是检测相对罕见的序列 当分析功能效应时， 可以与感兴趣的表型在统计学上相关。在第一阶段提案中， 我们建议扩展现有的数据库体系结构，并开发预处理 将描述所有观察到的变化（包括移码）的软件， 提供与所观察到的变化存在于所述样本中的可能性相关的得分， sample. 拟定商业应用： 预计制药和生物技术行业将越来越多地 药物开发工作依赖于新的和 临床和其他研究人群中存在的多态性。的 使用该补助金开发的软件将在可靠性方面变得至关重要。 鉴定和测定来自二倍体基因组来源的多态性。

Development of an automated DNA sequence variation analysis software and data management package is proposed. The software is aimed at analyzing diploid sequencing and methylation analysis samples from patients in a study population that have been stratified by some defining criteria or phenotype in relation to a disease of interest. The goal of the software is to detect relatively rare sequence variations or methylation state changes which when analyzed for functional effect can be statistically correlated with the phenotype of interest. In this Phase I proposal, we propose to extend an existing database architecture and develop pre-processing software that will characterize all observed variations (including frameshifts) and provide a score related to the likelihood that the observed variation is present in the sample. PROPOSED COMMERCIAL APPLICATION: The pharmaceutical and biotechnology industry is expected to become increasingly reliant in their drug development efforts on the ready identification of new and existing polymorphisms in clinical and other study populations of humans. The software developed using this grant will become centrally important in reliably identifying and assaying polymorphisms from diploid genomic sources.